DefinitionThis section has been translated automatically.
The TNFRSF4 gene (TNFRSF4 stands for "TNF Receptor Superfamily Member 4") is a protein coding gene
locatedon chromosome1p36
.33. The protein encoded by the TNFRSF4 gene is a member of the TNF receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with the adaptor proteins TRAF2 and TRAF5.
General informationThis section has been translated automatically.
Knockout studies in mice revealed that this receptor promotes the expression of the apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, thereby suppressing apoptosis. Knockout studies also suggest that this receptor plays a role in CD4+ T cell responses and in T cell-dependent B cell proliferation and differentiation. Furthermore, the TNFRSF4 receptor protein acts as a receptor for human herpesvirus 6B/HHV-6B.
Diseases associated with TNFRSF4 include:
- Immunodeficiency 16 and TNFRSF4 deficiency.
- Classical Kaposi's sarcoma in childhood
LiteratureThis section has been translated automatically.
- Byun M et al (2013) Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J Exp Med 210: 1743-1759.
- Furue M et al (2019) Pathogenesis of atopic dermatitis: current paradigm. Iran J Immunol 16: 97-107.
- Gu S et al (2020) Elevated TNFRSF4 gene expression is a predictor of poor prognosis in non-M3 acute myeloid leukemia. Cancer Cell Int 20:146.
- Sahin G et al (2012) Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds. Pediatrics 125: e704-e708.
